| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178607576T>A | CA349568181 | TTN,TTN-AS1 | c.45408A>T (p.Lys15136Asn) c.26493A>T (p.Lys8831Asn) c.26292A>T (p.Lys8764Asn) c.25917A>T (p.Lys8639Asn) c.53112A>T (p.Lys17704Asn) c.48189A>T (p.Lys16063Asn) n.683-591T>A c.52209A>T (p.Lys17403Asn) c.26103A>T (p.Lys8701Asn) c.25962A>T (p.Lys8654Asn) c.52005A>T (p.Lys17335Asn) c.47403A>T (p.Lys15801Asn) c.47400A>T (p.Lys15800Asn) c.44442A>T (p.Lys14814Asn) c.26058A>T (p.Lys8686Asn) c.47553A>T (p.Lys15851Asn) c.47550A>T (p.Lys15850Asn) c.46983A>T (p.Lys15661Asn) c.44325A>T (p.Lys14775Asn) c.44244A>T (p.Lys14748Asn) c.26007A>T (p.Lys8669Asn) c.15861A>T (p.Lys5287Asn) | |
| 2 | g.178607576T>C | CA430270843 | TTN,TTN-AS1 | c.45408A>G (p.Lys15136=) c.26493A>G (p.Lys8831=) c.26292A>G (p.Lys8764=) c.25917A>G (p.Lys8639=) c.53112A>G (p.Lys17704=) c.48189A>G (p.Lys16063=) n.683-591T>C c.52209A>G (p.Lys17403=) c.26103A>G (p.Lys8701=) c.25962A>G (p.Lys8654=) c.52005A>G (p.Lys17335=) c.47403A>G (p.Lys15801=) c.47400A>G (p.Lys15800=) c.44442A>G (p.Lys14814=) c.26058A>G (p.Lys8686=) c.47553A>G (p.Lys15851=) c.47550A>G (p.Lys15850=) c.46983A>G (p.Lys15661=) c.44325A>G (p.Lys14775=) c.44244A>G (p.Lys14748=) c.26007A>G (p.Lys8669=) c.15861A>G (p.Lys5287=) | gnomAD v4 |
| 2 | g.178607576T>G | CA349568185 | TTN,TTN-AS1 | c.45408A>C (p.Lys15136Asn) c.26493A>C (p.Lys8831Asn) c.26292A>C (p.Lys8764Asn) c.25917A>C (p.Lys8639Asn) c.53112A>C (p.Lys17704Asn) c.48189A>C (p.Lys16063Asn) n.683-591T>G c.52209A>C (p.Lys17403Asn) c.26103A>C (p.Lys8701Asn) c.25962A>C (p.Lys8654Asn) c.52005A>C (p.Lys17335Asn) c.47403A>C (p.Lys15801Asn) c.47400A>C (p.Lys15800Asn) c.44442A>C (p.Lys14814Asn) c.26058A>C (p.Lys8686Asn) c.47553A>C (p.Lys15851Asn) c.47550A>C (p.Lys15850Asn) c.46983A>C (p.Lys15661Asn) c.44325A>C (p.Lys14775Asn) c.44244A>C (p.Lys14748Asn) c.26007A>C (p.Lys8669Asn) c.15861A>C (p.Lys5287Asn) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178607577T>A | CA349568190 | TTN,TTN-AS1 | c.45407A>T (p.Lys15136Ile) c.26492A>T (p.Lys8831Ile) c.26291A>T (p.Lys8764Ile) c.25916A>T (p.Lys8639Ile) c.53111A>T (p.Lys17704Ile) c.48188A>T (p.Lys16063Ile) n.683-590T>A c.52208A>T (p.Lys17403Ile) c.26102A>T (p.Lys8701Ile) c.25961A>T (p.Lys8654Ile) c.52004A>T (p.Lys17335Ile) c.47402A>T (p.Lys15801Ile) c.47399A>T (p.Lys15800Ile) c.44441A>T (p.Lys14814Ile) c.26057A>T (p.Lys8686Ile) c.47552A>T (p.Lys15851Ile) c.47549A>T (p.Lys15850Ile) c.46982A>T (p.Lys15661Ile) c.44324A>T (p.Lys14775Ile) c.44243A>T (p.Lys14748Ile) c.26006A>T (p.Lys8669Ile) c.15860A>T (p.Lys5287Ile) | |
| 2 | g.178607577T>C | CA349568194 | TTN,TTN-AS1 | c.45407A>G (p.Lys15136Arg) c.26492A>G (p.Lys8831Arg) c.26291A>G (p.Lys8764Arg) c.25916A>G (p.Lys8639Arg) c.53111A>G (p.Lys17704Arg) c.48188A>G (p.Lys16063Arg) n.683-590T>C c.52208A>G (p.Lys17403Arg) c.26102A>G (p.Lys8701Arg) c.25961A>G (p.Lys8654Arg) c.52004A>G (p.Lys17335Arg) c.47402A>G (p.Lys15801Arg) c.47399A>G (p.Lys15800Arg) c.44441A>G (p.Lys14814Arg) c.26057A>G (p.Lys8686Arg) c.47552A>G (p.Lys15851Arg) c.47549A>G (p.Lys15850Arg) c.46982A>G (p.Lys15661Arg) c.44324A>G (p.Lys14775Arg) c.44243A>G (p.Lys14748Arg) c.26006A>G (p.Lys8669Arg) c.15860A>G (p.Lys5287Arg) | |
| 2 | g.178607577T>G | CA349568197 | TTN,TTN-AS1 | c.45407A>C (p.Lys15136Thr) c.26492A>C (p.Lys8831Thr) c.26291A>C (p.Lys8764Thr) c.25916A>C (p.Lys8639Thr) c.53111A>C (p.Lys17704Thr) c.48188A>C (p.Lys16063Thr) n.683-590T>G c.52208A>C (p.Lys17403Thr) c.26102A>C (p.Lys8701Thr) c.25961A>C (p.Lys8654Thr) c.52004A>C (p.Lys17335Thr) c.47402A>C (p.Lys15801Thr) c.47399A>C (p.Lys15800Thr) c.44441A>C (p.Lys14814Thr) c.26057A>C (p.Lys8686Thr) c.47552A>C (p.Lys15851Thr) c.47549A>C (p.Lys15850Thr) c.46982A>C (p.Lys15661Thr) c.44324A>C (p.Lys14775Thr) c.44243A>C (p.Lys14748Thr) c.26006A>C (p.Lys8669Thr) c.15860A>C (p.Lys5287Thr) | |
| 2 | g.178607578T>A | CA349568207 | TTN,TTN-AS1 | c.45406A>T (p.Lys15136Ter) c.26491A>T (p.Lys8831Ter) c.26290A>T (p.Lys8764Ter) c.25915A>T (p.Lys8639Ter) c.53110A>T (p.Lys17704Ter) c.48187A>T (p.Lys16063Ter) n.683-589T>A c.52207A>T (p.Lys17403Ter) c.26101A>T (p.Lys8701Ter) c.25960A>T (p.Lys8654Ter) c.52003A>T (p.Lys17335Ter) c.47401A>T (p.Lys15801Ter) c.47398A>T (p.Lys15800Ter) c.44440A>T (p.Lys14814Ter) c.26056A>T (p.Lys8686Ter) c.47551A>T (p.Lys15851Ter) c.47548A>T (p.Lys15850Ter) c.46981A>T (p.Lys15661Ter) c.44323A>T (p.Lys14775Ter) c.44242A>T (p.Lys14748Ter) c.26005A>T (p.Lys8669Ter) c.15859A>T (p.Lys5287Ter) | |
| 2 | g.178607578T>C | CA349568204 | TTN,TTN-AS1 | c.45406A>G (p.Lys15136Glu) c.26491A>G (p.Lys8831Glu) c.26290A>G (p.Lys8764Glu) c.25915A>G (p.Lys8639Glu) c.53110A>G (p.Lys17704Glu) c.48187A>G (p.Lys16063Glu) n.683-589T>C c.52207A>G (p.Lys17403Glu) c.26101A>G (p.Lys8701Glu) c.25960A>G (p.Lys8654Glu) c.52003A>G (p.Lys17335Glu) c.47401A>G (p.Lys15801Glu) c.47398A>G (p.Lys15800Glu) c.44440A>G (p.Lys14814Glu) c.26056A>G (p.Lys8686Glu) c.47551A>G (p.Lys15851Glu) c.47548A>G (p.Lys15850Glu) c.46981A>G (p.Lys15661Glu) c.44323A>G (p.Lys14775Glu) c.44242A>G (p.Lys14748Glu) c.26005A>G (p.Lys8669Glu) c.15859A>G (p.Lys5287Glu) | gnomAD v4 |
| 2 | g.178607578T>G | CA349568201 | TTN,TTN-AS1 | c.45406A>C (p.Lys15136Gln) c.26491A>C (p.Lys8831Gln) c.26290A>C (p.Lys8764Gln) c.25915A>C (p.Lys8639Gln) c.53110A>C (p.Lys17704Gln) c.48187A>C (p.Lys16063Gln) n.683-589T>G c.52207A>C (p.Lys17403Gln) c.26101A>C (p.Lys8701Gln) c.25960A>C (p.Lys8654Gln) c.52003A>C (p.Lys17335Gln) c.47401A>C (p.Lys15801Gln) c.47398A>C (p.Lys15800Gln) c.44440A>C (p.Lys14814Gln) c.26056A>C (p.Lys8686Gln) c.47551A>C (p.Lys15851Gln) c.47548A>C (p.Lys15850Gln) c.46981A>C (p.Lys15661Gln) c.44323A>C (p.Lys14775Gln) c.44242A>C (p.Lys14748Gln) c.26005A>C (p.Lys8669Gln) c.15859A>C (p.Lys5287Gln) | |
| 2 | g.178607579T>A | CA430270852 | TTN,TTN-AS1 | c.45405A>T (p.Thr15135=) c.26490A>T (p.Thr8830=) c.26289A>T (p.Thr8763=) c.25914A>T (p.Thr8638=) c.53109A>T (p.Thr17703=) c.48186A>T (p.Thr16062=) n.683-588T>A c.52206A>T (p.Thr17402=) c.26100A>T (p.Thr8700=) c.25959A>T (p.Thr8653=) c.52002A>T (p.Thr17334=) c.47400A>T (p.Thr15800=) c.47397A>T (p.Thr15799=) c.44439A>T (p.Thr14813=) c.26055A>T (p.Thr8685=) c.47550A>T (p.Thr15850=) c.47547A>T (p.Thr15849=) c.46980A>T (p.Thr15660=) c.44322A>T (p.Thr14774=) c.44241A>T (p.Thr14747=) c.26004A>T (p.Thr8668=) c.15858A>T (p.Thr5286=) | |
| 2 | g.178607579T>C | CA430270853 | TTN,TTN-AS1 | c.45405A>G (p.Thr15135=) c.26490A>G (p.Thr8830=) c.26289A>G (p.Thr8763=) c.25914A>G (p.Thr8638=) c.53109A>G (p.Thr17703=) c.48186A>G (p.Thr16062=) n.683-588T>C c.52206A>G (p.Thr17402=) c.26100A>G (p.Thr8700=) c.25959A>G (p.Thr8653=) c.52002A>G (p.Thr17334=) c.47400A>G (p.Thr15800=) c.47397A>G (p.Thr15799=) c.44439A>G (p.Thr14813=) c.26055A>G (p.Thr8685=) c.47550A>G (p.Thr15850=) c.47547A>G (p.Thr15849=) c.46980A>G (p.Thr15660=) c.44322A>G (p.Thr14774=) c.44241A>G (p.Thr14747=) c.26004A>G (p.Thr8668=) c.15858A>G (p.Thr5286=) | ClinVar dbSNP |
| 2 | g.178607579T>G | CA430270854 | TTN,TTN-AS1 | c.45405A>C (p.Thr15135=) c.26490A>C (p.Thr8830=) c.26289A>C (p.Thr8763=) c.25914A>C (p.Thr8638=) c.53109A>C (p.Thr17703=) c.48186A>C (p.Thr16062=) n.683-588T>G c.52206A>C (p.Thr17402=) c.26100A>C (p.Thr8700=) c.25959A>C (p.Thr8653=) c.52002A>C (p.Thr17334=) c.47400A>C (p.Thr15800=) c.47397A>C (p.Thr15799=) c.44439A>C (p.Thr14813=) c.26055A>C (p.Thr8685=) c.47550A>C (p.Thr15850=) c.47547A>C (p.Thr15849=) c.46980A>C (p.Thr15660=) c.44322A>C (p.Thr14774=) c.44241A>C (p.Thr14747=) c.26004A>C (p.Thr8668=) c.15858A>C (p.Thr5286=) | |
| 2 | g.178607580G>A | CA349568213 | TTN,TTN-AS1 | c.45404C>T (p.Thr15135Ile) c.26489C>T (p.Thr8830Ile) c.26288C>T (p.Thr8763Ile) c.25913C>T (p.Thr8638Ile) c.53108C>T (p.Thr17703Ile) c.48185C>T (p.Thr16062Ile) n.683-587G>A c.52205C>T (p.Thr17402Ile) c.26099C>T (p.Thr8700Ile) c.25958C>T (p.Thr8653Ile) c.52001C>T (p.Thr17334Ile) c.47399C>T (p.Thr15800Ile) c.47396C>T (p.Thr15799Ile) c.44438C>T (p.Thr14813Ile) c.26054C>T (p.Thr8685Ile) c.47549C>T (p.Thr15850Ile) c.47546C>T (p.Thr15849Ile) c.46979C>T (p.Thr15660Ile) c.44321C>T (p.Thr14774Ile) c.44240C>T (p.Thr14747Ile) c.26003C>T (p.Thr8668Ile) c.15857C>T (p.Thr5286Ile) | |
| 2 | g.178607580G>C | CA349568220 | TTN,TTN-AS1 | c.45404C>G (p.Thr15135Arg) c.26489C>G (p.Thr8830Arg) c.26288C>G (p.Thr8763Arg) c.25913C>G (p.Thr8638Arg) c.53108C>G (p.Thr17703Arg) c.48185C>G (p.Thr16062Arg) n.683-587G>C c.52205C>G (p.Thr17402Arg) c.26099C>G (p.Thr8700Arg) c.25958C>G (p.Thr8653Arg) c.52001C>G (p.Thr17334Arg) c.47399C>G (p.Thr15800Arg) c.47396C>G (p.Thr15799Arg) c.44438C>G (p.Thr14813Arg) c.26054C>G (p.Thr8685Arg) c.47549C>G (p.Thr15850Arg) c.47546C>G (p.Thr15849Arg) c.46979C>G (p.Thr15660Arg) c.44321C>G (p.Thr14774Arg) c.44240C>G (p.Thr14747Arg) c.26003C>G (p.Thr8668Arg) c.15857C>G (p.Thr5286Arg) | |
| 2 | g.178607580G>T | CA349568217 | TTN,TTN-AS1 | c.45404C>A (p.Thr15135Lys) c.26489C>A (p.Thr8830Lys) c.26288C>A (p.Thr8763Lys) c.25913C>A (p.Thr8638Lys) c.53108C>A (p.Thr17703Lys) c.48185C>A (p.Thr16062Lys) n.683-587G>T c.52205C>A (p.Thr17402Lys) c.26099C>A (p.Thr8700Lys) c.25958C>A (p.Thr8653Lys) c.52001C>A (p.Thr17334Lys) c.47399C>A (p.Thr15800Lys) c.47396C>A (p.Thr15799Lys) c.44438C>A (p.Thr14813Lys) c.26054C>A (p.Thr8685Lys) c.47549C>A (p.Thr15850Lys) c.47546C>A (p.Thr15849Lys) c.46979C>A (p.Thr15660Lys) c.44321C>A (p.Thr14774Lys) c.44240C>A (p.Thr14747Lys) c.26003C>A (p.Thr8668Lys) c.15857C>A (p.Thr5286Lys) | |
| 2 | g.178607581T>A | CA349568225 | TTN,TTN-AS1 | c.45403A>T (p.Thr15135Ser) c.26488A>T (p.Thr8830Ser) c.26287A>T (p.Thr8763Ser) c.25912A>T (p.Thr8638Ser) c.53107A>T (p.Thr17703Ser) c.48184A>T (p.Thr16062Ser) n.683-586T>A c.52204A>T (p.Thr17402Ser) c.26098A>T (p.Thr8700Ser) c.25957A>T (p.Thr8653Ser) c.52000A>T (p.Thr17334Ser) c.47398A>T (p.Thr15800Ser) c.47395A>T (p.Thr15799Ser) c.44437A>T (p.Thr14813Ser) c.26053A>T (p.Thr8685Ser) c.47548A>T (p.Thr15850Ser) c.47545A>T (p.Thr15849Ser) c.46978A>T (p.Thr15660Ser) c.44320A>T (p.Thr14774Ser) c.44239A>T (p.Thr14747Ser) c.26002A>T (p.Thr8668Ser) c.15856A>T (p.Thr5286Ser) | gnomAD v4 |
| 2 | g.178607581T>C | CA349568231 | TTN,TTN-AS1 | c.45403A>G (p.Thr15135Ala) c.26488A>G (p.Thr8830Ala) c.26287A>G (p.Thr8763Ala) c.25912A>G (p.Thr8638Ala) c.53107A>G (p.Thr17703Ala) c.48184A>G (p.Thr16062Ala) n.683-586T>C c.52204A>G (p.Thr17402Ala) c.26098A>G (p.Thr8700Ala) c.25957A>G (p.Thr8653Ala) c.52000A>G (p.Thr17334Ala) c.47398A>G (p.Thr15800Ala) c.47395A>G (p.Thr15799Ala) c.44437A>G (p.Thr14813Ala) c.26053A>G (p.Thr8685Ala) c.47548A>G (p.Thr15850Ala) c.47545A>G (p.Thr15849Ala) c.46978A>G (p.Thr15660Ala) c.44320A>G (p.Thr14774Ala) c.44239A>G (p.Thr14747Ala) c.26002A>G (p.Thr8668Ala) c.15856A>G (p.Thr5286Ala) | gnomAD v4 |
| 2 | g.178607581T>G | CA349568228 | TTN,TTN-AS1 | c.45403A>C (p.Thr15135Pro) c.26488A>C (p.Thr8830Pro) c.26287A>C (p.Thr8763Pro) c.25912A>C (p.Thr8638Pro) c.53107A>C (p.Thr17703Pro) c.48184A>C (p.Thr16062Pro) n.683-586T>G c.52204A>C (p.Thr17402Pro) c.26098A>C (p.Thr8700Pro) c.25957A>C (p.Thr8653Pro) c.52000A>C (p.Thr17334Pro) c.47398A>C (p.Thr15800Pro) c.47395A>C (p.Thr15799Pro) c.44437A>C (p.Thr14813Pro) c.26053A>C (p.Thr8685Pro) c.47548A>C (p.Thr15850Pro) c.47545A>C (p.Thr15849Pro) c.46978A>C (p.Thr15660Pro) c.44320A>C (p.Thr14774Pro) c.44239A>C (p.Thr14747Pro) c.26002A>C (p.Thr8668Pro) c.15856A>C (p.Thr5286Pro) | |
| 2 | g.178607582A>C | CA430270857 | TTN,TTN-AS1 | c.45402T>G (p.Pro15134=) c.26487T>G (p.Pro8829=) c.26286T>G (p.Pro8762=) c.25911T>G (p.Pro8637=) c.53106T>G (p.Pro17702=) c.48183T>G (p.Pro16061=) n.683-585A>C c.52203T>G (p.Pro17401=) c.26097T>G (p.Pro8699=) c.25956T>G (p.Pro8652=) c.51999T>G (p.Pro17333=) c.47397T>G (p.Pro15799=) c.47394T>G (p.Pro15798=) c.44436T>G (p.Pro14812=) c.26052T>G (p.Pro8684=) c.47547T>G (p.Pro15849=) c.47544T>G (p.Pro15848=) c.46977T>G (p.Pro15659=) c.44319T>G (p.Pro14773=) c.44238T>G (p.Pro14746=) c.26001T>G (p.Pro8667=) c.15855T>G (p.Pro5285=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178607582A>G | CA430270858 | TTN,TTN-AS1 | c.45402T>C (p.Pro15134=) c.26487T>C (p.Pro8829=) c.26286T>C (p.Pro8762=) c.25911T>C (p.Pro8637=) c.53106T>C (p.Pro17702=) c.48183T>C (p.Pro16061=) n.683-585A>G c.52203T>C (p.Pro17401=) c.26097T>C (p.Pro8699=) c.25956T>C (p.Pro8652=) c.51999T>C (p.Pro17333=) c.47397T>C (p.Pro15799=) c.47394T>C (p.Pro15798=) c.44436T>C (p.Pro14812=) c.26052T>C (p.Pro8684=) c.47547T>C (p.Pro15849=) c.47544T>C (p.Pro15848=) c.46977T>C (p.Pro15659=) c.44319T>C (p.Pro14773=) c.44238T>C (p.Pro14746=) c.26001T>C (p.Pro8667=) c.15855T>C (p.Pro5285=) | |
| 2 | g.178607582A>T | CA430270860 | TTN,TTN-AS1 | c.45402T>A (p.Pro15134=) c.26487T>A (p.Pro8829=) c.26286T>A (p.Pro8762=) c.25911T>A (p.Pro8637=) c.53106T>A (p.Pro17702=) c.48183T>A (p.Pro16061=) n.683-585A>T c.52203T>A (p.Pro17401=) c.26097T>A (p.Pro8699=) c.25956T>A (p.Pro8652=) c.51999T>A (p.Pro17333=) c.47397T>A (p.Pro15799=) c.47394T>A (p.Pro15798=) c.44436T>A (p.Pro14812=) c.26052T>A (p.Pro8684=) c.47547T>A (p.Pro15849=) c.47544T>A (p.Pro15848=) c.46977T>A (p.Pro15659=) c.44319T>A (p.Pro14773=) c.44238T>A (p.Pro14746=) c.26001T>A (p.Pro8667=) c.15855T>A (p.Pro5285=) | |
| 2 | g.178607583G>A | CA349568235 | TTN,TTN-AS1 | c.45401C>T (p.Pro15134Leu) c.26486C>T (p.Pro8829Leu) c.26285C>T (p.Pro8762Leu) c.25910C>T (p.Pro8637Leu) c.53105C>T (p.Pro17702Leu) c.48182C>T (p.Pro16061Leu) n.683-584G>A c.52202C>T (p.Pro17401Leu) c.26096C>T (p.Pro8699Leu) c.25955C>T (p.Pro8652Leu) c.51998C>T (p.Pro17333Leu) c.47396C>T (p.Pro15799Leu) c.47393C>T (p.Pro15798Leu) c.44435C>T (p.Pro14812Leu) c.26051C>T (p.Pro8684Leu) c.47546C>T (p.Pro15849Leu) c.47543C>T (p.Pro15848Leu) c.46976C>T (p.Pro15659Leu) c.44318C>T (p.Pro14773Leu) c.44237C>T (p.Pro14746Leu) c.26000C>T (p.Pro8667Leu) c.15854C>T (p.Pro5285Leu) | |
| 2 | g.178607583G>C | CA349568242 | TTN,TTN-AS1 | c.45401C>G (p.Pro15134Arg) c.26486C>G (p.Pro8829Arg) c.26285C>G (p.Pro8762Arg) c.25910C>G (p.Pro8637Arg) c.53105C>G (p.Pro17702Arg) c.48182C>G (p.Pro16061Arg) n.683-584G>C c.52202C>G (p.Pro17401Arg) c.26096C>G (p.Pro8699Arg) c.25955C>G (p.Pro8652Arg) c.51998C>G (p.Pro17333Arg) c.47396C>G (p.Pro15799Arg) c.47393C>G (p.Pro15798Arg) c.44435C>G (p.Pro14812Arg) c.26051C>G (p.Pro8684Arg) c.47546C>G (p.Pro15849Arg) c.47543C>G (p.Pro15848Arg) c.46976C>G (p.Pro15659Arg) c.44318C>G (p.Pro14773Arg) c.44237C>G (p.Pro14746Arg) c.26000C>G (p.Pro8667Arg) c.15854C>G (p.Pro5285Arg) | |
| 2 | g.178607583G>T | CA349568239 | TTN,TTN-AS1 | c.45401C>A (p.Pro15134His) c.26486C>A (p.Pro8829His) c.26285C>A (p.Pro8762His) c.25910C>A (p.Pro8637His) c.53105C>A (p.Pro17702His) c.48182C>A (p.Pro16061His) n.683-584G>T c.52202C>A (p.Pro17401His) c.26096C>A (p.Pro8699His) c.25955C>A (p.Pro8652His) c.51998C>A (p.Pro17333His) c.47396C>A (p.Pro15799His) c.47393C>A (p.Pro15798His) c.44435C>A (p.Pro14812His) c.26051C>A (p.Pro8684His) c.47546C>A (p.Pro15849His) c.47543C>A (p.Pro15848His) c.46976C>A (p.Pro15659His) c.44318C>A (p.Pro14773His) c.44237C>A (p.Pro14746His) c.26000C>A (p.Pro8667His) c.15854C>A (p.Pro5285His) | |
| 2 | g.178607584G>A | CA349568246 | TTN,TTN-AS1 | c.45400C>T (p.Pro15134Ser) c.26485C>T (p.Pro8829Ser) c.26284C>T (p.Pro8762Ser) c.25909C>T (p.Pro8637Ser) c.53104C>T (p.Pro17702Ser) c.48181C>T (p.Pro16061Ser) n.683-583G>A c.52201C>T (p.Pro17401Ser) c.26095C>T (p.Pro8699Ser) c.25954C>T (p.Pro8652Ser) c.51997C>T (p.Pro17333Ser) c.47395C>T (p.Pro15799Ser) c.47392C>T (p.Pro15798Ser) c.44434C>T (p.Pro14812Ser) c.26050C>T (p.Pro8684Ser) c.47545C>T (p.Pro15849Ser) c.47542C>T (p.Pro15848Ser) c.46975C>T (p.Pro15659Ser) c.44317C>T (p.Pro14773Ser) c.44236C>T (p.Pro14746Ser) c.25999C>T (p.Pro8667Ser) c.15853C>T (p.Pro5285Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178607584G>C | CA349568251 | TTN,TTN-AS1 | c.45400C>G (p.Pro15134Ala) c.26485C>G (p.Pro8829Ala) c.26284C>G (p.Pro8762Ala) c.25909C>G (p.Pro8637Ala) c.53104C>G (p.Pro17702Ala) c.48181C>G (p.Pro16061Ala) n.683-583G>C c.52201C>G (p.Pro17401Ala) c.26095C>G (p.Pro8699Ala) c.25954C>G (p.Pro8652Ala) c.51997C>G (p.Pro17333Ala) c.47395C>G (p.Pro15799Ala) c.47392C>G (p.Pro15798Ala) c.44434C>G (p.Pro14812Ala) c.26050C>G (p.Pro8684Ala) c.47545C>G (p.Pro15849Ala) c.47542C>G (p.Pro15848Ala) c.46975C>G (p.Pro15659Ala) c.44317C>G (p.Pro14773Ala) c.44236C>G (p.Pro14746Ala) c.25999C>G (p.Pro8667Ala) c.15853C>G (p.Pro5285Ala) | |
| 2 | g.178607584G= | CA1310546621 | TTN,TTN-AS1 | c.45400C= (p.Pro15134=) c.26485C= (p.Pro8829=) c.26284C= (p.Pro8762=) c.25909C= (p.Pro8637=) c.53104C= (p.Pro17702=) c.48181C= (p.Pro16061=) n.683-583G= c.52201C= (p.Pro17401=) c.26095C= (p.Pro8699=) c.25954C= (p.Pro8652=) c.51997C= (p.Pro17333=) c.47395C= (p.Pro15799=) c.47392C= (p.Pro15798=) c.44434C= (p.Pro14812=) c.26050C= (p.Pro8684=) c.47545C= (p.Pro15849=) c.47542C= (p.Pro15848=) c.46975C= (p.Pro15659=) c.44317C= (p.Pro14773=) c.44236C= (p.Pro14746=) c.25999C= (p.Pro8667=) c.15853C= (p.Pro5285=) | |
| 2 | g.178607584G>T | CA349568247 | TTN,TTN-AS1 | c.45400C>A (p.Pro15134Thr) c.26485C>A (p.Pro8829Thr) c.26284C>A (p.Pro8762Thr) c.25909C>A (p.Pro8637Thr) c.53104C>A (p.Pro17702Thr) c.48181C>A (p.Pro16061Thr) n.683-583G>T c.52201C>A (p.Pro17401Thr) c.26095C>A (p.Pro8699Thr) c.25954C>A (p.Pro8652Thr) c.51997C>A (p.Pro17333Thr) c.47395C>A (p.Pro15799Thr) c.47392C>A (p.Pro15798Thr) c.44434C>A (p.Pro14812Thr) c.26050C>A (p.Pro8684Thr) c.47545C>A (p.Pro15849Thr) c.47542C>A (p.Pro15848Thr) c.46975C>A (p.Pro15659Thr) c.44317C>A (p.Pro14773Thr) c.44236C>A (p.Pro14746Thr) c.25999C>A (p.Pro8667Thr) c.15853C>A (p.Pro5285Thr) | |
| 2 | g.178607585T>A | CA430270872 | TTN,TTN-AS1 | c.45399A>T (p.Val15133=) c.26484A>T (p.Val8828=) c.26283A>T (p.Val8761=) c.25908A>T (p.Val8636=) c.53103A>T (p.Val17701=) c.48180A>T (p.Val16060=) n.683-582T>A c.52200A>T (p.Val17400=) c.26094A>T (p.Val8698=) c.25953A>T (p.Val8651=) c.51996A>T (p.Val17332=) c.47394A>T (p.Val15798=) c.47391A>T (p.Val15797=) c.44433A>T (p.Val14811=) c.26049A>T (p.Val8683=) c.47544A>T (p.Val15848=) c.47541A>T (p.Val15847=) c.46974A>T (p.Val15658=) c.44316A>T (p.Val14772=) c.44235A>T (p.Val14745=) c.25998A>T (p.Val8666=) c.15852A>T (p.Val5284=) | |
| 2 | g.178607585T>C | CA430270869 | TTN,TTN-AS1 | c.45399A>G (p.Val15133=) c.26484A>G (p.Val8828=) c.26283A>G (p.Val8761=) c.25908A>G (p.Val8636=) c.53103A>G (p.Val17701=) c.48180A>G (p.Val16060=) n.683-582T>C c.52200A>G (p.Val17400=) c.26094A>G (p.Val8698=) c.25953A>G (p.Val8651=) c.51996A>G (p.Val17332=) c.47394A>G (p.Val15798=) c.47391A>G (p.Val15797=) c.44433A>G (p.Val14811=) c.26049A>G (p.Val8683=) c.47544A>G (p.Val15848=) c.47541A>G (p.Val15847=) c.46974A>G (p.Val15658=) c.44316A>G (p.Val14772=) c.44235A>G (p.Val14745=) c.25998A>G (p.Val8666=) c.15852A>G (p.Val5284=) | |
| 2 | g.178607585T>G | CA430270867 | TTN,TTN-AS1 | c.45399A>C (p.Val15133=) c.26484A>C (p.Val8828=) c.26283A>C (p.Val8761=) c.25908A>C (p.Val8636=) c.53103A>C (p.Val17701=) c.48180A>C (p.Val16060=) n.683-582T>G c.52200A>C (p.Val17400=) c.26094A>C (p.Val8698=) c.25953A>C (p.Val8651=) c.51996A>C (p.Val17332=) c.47394A>C (p.Val15798=) c.47391A>C (p.Val15797=) c.44433A>C (p.Val14811=) c.26049A>C (p.Val8683=) c.47544A>C (p.Val15848=) c.47541A>C (p.Val15847=) c.46974A>C (p.Val15658=) c.44316A>C (p.Val14772=) c.44235A>C (p.Val14745=) c.25998A>C (p.Val8666=) c.15852A>C (p.Val5284=) | |
| 2 | g.178607586A= | CA1310546622 | TTN,TTN-AS1 | c.45398T= (p.Val15133=) c.26483T= (p.Val8828=) c.26282T= (p.Val8761=) c.25907T= (p.Val8636=) c.53102T= (p.Val17701=) c.48179T= (p.Val16060=) n.683-581A= c.52199T= (p.Val17400=) c.26093T= (p.Val8698=) c.25952T= (p.Val8651=) c.51995T= (p.Val17332=) c.47393T= (p.Val15798=) c.47390T= (p.Val15797=) c.44432T= (p.Val14811=) c.26048T= (p.Val8683=) c.47543T= (p.Val15848=) c.47540T= (p.Val15847=) c.46973T= (p.Val15658=) c.44315T= (p.Val14772=) c.44234T= (p.Val14745=) c.25997T= (p.Val8666=) c.15851T= (p.Val5284=) | |
| 2 | g.178607586A>C | CA349568265 | TTN,TTN-AS1 | c.45398T>G (p.Val15133Gly) c.26483T>G (p.Val8828Gly) c.26282T>G (p.Val8761Gly) c.25907T>G (p.Val8636Gly) c.53102T>G (p.Val17701Gly) c.48179T>G (p.Val16060Gly) n.683-581A>C c.52199T>G (p.Val17400Gly) c.26093T>G (p.Val8698Gly) c.25952T>G (p.Val8651Gly) c.51995T>G (p.Val17332Gly) c.47393T>G (p.Val15798Gly) c.47390T>G (p.Val15797Gly) c.44432T>G (p.Val14811Gly) c.26048T>G (p.Val8683Gly) c.47543T>G (p.Val15848Gly) c.47540T>G (p.Val15847Gly) c.46973T>G (p.Val15658Gly) c.44315T>G (p.Val14772Gly) c.44234T>G (p.Val14745Gly) c.25997T>G (p.Val8666Gly) c.15851T>G (p.Val5284Gly) | |
| 2 | g.178607586A>G | CA349568269 | TTN,TTN-AS1 | c.45398T>C (p.Val15133Ala) c.26483T>C (p.Val8828Ala) c.26282T>C (p.Val8761Ala) c.25907T>C (p.Val8636Ala) c.53102T>C (p.Val17701Ala) c.48179T>C (p.Val16060Ala) n.683-581A>G c.52199T>C (p.Val17400Ala) c.26093T>C (p.Val8698Ala) c.25952T>C (p.Val8651Ala) c.51995T>C (p.Val17332Ala) c.47393T>C (p.Val15798Ala) c.47390T>C (p.Val15797Ala) c.44432T>C (p.Val14811Ala) c.26048T>C (p.Val8683Ala) c.47543T>C (p.Val15848Ala) c.47540T>C (p.Val15847Ala) c.46973T>C (p.Val15658Ala) c.44315T>C (p.Val14772Ala) c.44234T>C (p.Val14745Ala) c.25997T>C (p.Val8666Ala) c.15851T>C (p.Val5284Ala) | |
| 2 | g.178607586A>T | CA349568267 | TTN,TTN-AS1 | c.45398T>A (p.Val15133Glu) c.26483T>A (p.Val8828Glu) c.26282T>A (p.Val8761Glu) c.25907T>A (p.Val8636Glu) c.53102T>A (p.Val17701Glu) c.48179T>A (p.Val16060Glu) n.683-581A>T c.52199T>A (p.Val17400Glu) c.26093T>A (p.Val8698Glu) c.25952T>A (p.Val8651Glu) c.51995T>A (p.Val17332Glu) c.47393T>A (p.Val15798Glu) c.47390T>A (p.Val15797Glu) c.44432T>A (p.Val14811Glu) c.26048T>A (p.Val8683Glu) c.47543T>A (p.Val15848Glu) c.47540T>A (p.Val15847Glu) c.46973T>A (p.Val15658Glu) c.44315T>A (p.Val14772Glu) c.44234T>A (p.Val14745Glu) c.25997T>A (p.Val8666Glu) c.15851T>A (p.Val5284Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178607587C>A | CA349568274 | TTN,TTN-AS1 | c.45397G>T (p.Val15133Leu) c.26482G>T (p.Val8828Leu) c.26281G>T (p.Val8761Leu) c.25906G>T (p.Val8636Leu) c.53101G>T (p.Val17701Leu) c.48178G>T (p.Val16060Leu) n.683-580C>A c.52198G>T (p.Val17400Leu) c.26092G>T (p.Val8698Leu) c.25951G>T (p.Val8651Leu) c.51994G>T (p.Val17332Leu) c.47392G>T (p.Val15798Leu) c.47389G>T (p.Val15797Leu) c.44431G>T (p.Val14811Leu) c.26047G>T (p.Val8683Leu) c.47542G>T (p.Val15848Leu) c.47539G>T (p.Val15847Leu) c.46972G>T (p.Val15658Leu) c.44314G>T (p.Val14772Leu) c.44233G>T (p.Val14745Leu) c.25996G>T (p.Val8666Leu) c.15850G>T (p.Val5284Leu) | |
| 2 | g.178607587C= | CA1310546623 | TTN,TTN-AS1 | c.45397G= (p.Val15133=) c.26482G= (p.Val8828=) c.26281G= (p.Val8761=) c.25906G= (p.Val8636=) c.53101G= (p.Val17701=) c.48178G= (p.Val16060=) n.683-580C= c.52198G= (p.Val17400=) c.26092G= (p.Val8698=) c.25951G= (p.Val8651=) c.51994G= (p.Val17332=) c.47392G= (p.Val15798=) c.47389G= (p.Val15797=) c.44431G= (p.Val14811=) c.26047G= (p.Val8683=) c.47542G= (p.Val15848=) c.47539G= (p.Val15847=) c.46972G= (p.Val15658=) c.44314G= (p.Val14772=) c.44233G= (p.Val14745=) c.25996G= (p.Val8666=) c.15850G= (p.Val5284=) | |
| 2 | g.178607587C>G | CA349568277 | TTN,TTN-AS1 | c.45397G>C (p.Val15133Leu) c.26482G>C (p.Val8828Leu) c.26281G>C (p.Val8761Leu) c.25906G>C (p.Val8636Leu) c.53101G>C (p.Val17701Leu) c.48178G>C (p.Val16060Leu) n.683-580C>G c.52198G>C (p.Val17400Leu) c.26092G>C (p.Val8698Leu) c.25951G>C (p.Val8651Leu) c.51994G>C (p.Val17332Leu) c.47392G>C (p.Val15798Leu) c.47389G>C (p.Val15797Leu) c.44431G>C (p.Val14811Leu) c.26047G>C (p.Val8683Leu) c.47542G>C (p.Val15848Leu) c.47539G>C (p.Val15847Leu) c.46972G>C (p.Val15658Leu) c.44314G>C (p.Val14772Leu) c.44233G>C (p.Val14745Leu) c.25996G>C (p.Val8666Leu) c.15850G>C (p.Val5284Leu) | |
| 2 | g.178607587C>T | CA349568279 | TTN,TTN-AS1 | c.45397G>A (p.Val15133Ile) c.26482G>A (p.Val8828Ile) c.26281G>A (p.Val8761Ile) c.25906G>A (p.Val8636Ile) c.53101G>A (p.Val17701Ile) c.48178G>A (p.Val16060Ile) n.683-580C>T c.52198G>A (p.Val17400Ile) c.26092G>A (p.Val8698Ile) c.25951G>A (p.Val8651Ile) c.51994G>A (p.Val17332Ile) c.47392G>A (p.Val15798Ile) c.47389G>A (p.Val15797Ile) c.44431G>A (p.Val14811Ile) c.26047G>A (p.Val8683Ile) c.47542G>A (p.Val15848Ile) c.47539G>A (p.Val15847Ile) c.46972G>A (p.Val15658Ile) c.44314G>A (p.Val14772Ile) c.44233G>A (p.Val14745Ile) c.25996G>A (p.Val8666Ile) c.15850G>A (p.Val5284Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178607588A= | CA1310546624 | TTN,TTN-AS1 | c.45396T= (p.Pro15132=) c.26481T= (p.Pro8827=) c.26280T= (p.Pro8760=) c.25905T= (p.Pro8635=) c.53100T= (p.Pro17700=) c.48177T= (p.Pro16059=) n.683-579A= c.52197T= (p.Pro17399=) c.26091T= (p.Pro8697=) c.25950T= (p.Pro8650=) c.51993T= (p.Pro17331=) c.47391T= (p.Pro15797=) c.47388T= (p.Pro15796=) c.44430T= (p.Pro14810=) c.26046T= (p.Pro8682=) c.47541T= (p.Pro15847=) c.47538T= (p.Pro15846=) c.46971T= (p.Pro15657=) c.44313T= (p.Pro14771=) c.44232T= (p.Pro14744=) c.25995T= (p.Pro8665=) c.15849T= (p.Pro5283=) | |
| 2 | g.178607588A>C | CA1993856 | TTN,TTN-AS1 | c.45396T>G (p.Pro15132=) c.26481T>G (p.Pro8827=) c.26280T>G (p.Pro8760=) c.25905T>G (p.Pro8635=) c.53100T>G (p.Pro17700=) c.48177T>G (p.Pro16059=) n.683-579A>C c.52197T>G (p.Pro17399=) c.26091T>G (p.Pro8697=) c.25950T>G (p.Pro8650=) c.51993T>G (p.Pro17331=) c.47391T>G (p.Pro15797=) c.47388T>G (p.Pro15796=) c.44430T>G (p.Pro14810=) c.26046T>G (p.Pro8682=) c.47541T>G (p.Pro15847=) c.47538T>G (p.Pro15846=) c.46971T>G (p.Pro15657=) c.44313T>G (p.Pro14771=) c.44232T>G (p.Pro14744=) c.25995T>G (p.Pro8665=) c.15849T>G (p.Pro5283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178607588A>G | CA10611666 | TTN,TTN-AS1 | c.45396T>C (p.Pro15132=) c.26481T>C (p.Pro8827=) c.26280T>C (p.Pro8760=) c.25905T>C (p.Pro8635=) c.53100T>C (p.Pro17700=) c.48177T>C (p.Pro16059=) n.683-579A>G c.52197T>C (p.Pro17399=) c.26091T>C (p.Pro8697=) c.25950T>C (p.Pro8650=) c.51993T>C (p.Pro17331=) c.47391T>C (p.Pro15797=) c.47388T>C (p.Pro15796=) c.44430T>C (p.Pro14810=) c.26046T>C (p.Pro8682=) c.47541T>C (p.Pro15847=) c.47538T>C (p.Pro15846=) c.46971T>C (p.Pro15657=) c.44313T>C (p.Pro14771=) c.44232T>C (p.Pro14744=) c.25995T>C (p.Pro8665=) c.15849T>C (p.Pro5283=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178607588A>T | CA430270888 | TTN,TTN-AS1 | c.45396T>A (p.Pro15132=) c.26481T>A (p.Pro8827=) c.26280T>A (p.Pro8760=) c.25905T>A (p.Pro8635=) c.53100T>A (p.Pro17700=) c.48177T>A (p.Pro16059=) n.683-579A>T c.52197T>A (p.Pro17399=) c.26091T>A (p.Pro8697=) c.25950T>A (p.Pro8650=) c.51993T>A (p.Pro17331=) c.47391T>A (p.Pro15797=) c.47388T>A (p.Pro15796=) c.44430T>A (p.Pro14810=) c.26046T>A (p.Pro8682=) c.47541T>A (p.Pro15847=) c.47538T>A (p.Pro15846=) c.46971T>A (p.Pro15657=) c.44313T>A (p.Pro14771=) c.44232T>A (p.Pro14744=) c.25995T>A (p.Pro8665=) c.15849T>A (p.Pro5283=) | |
| 2 | g.178607589G>A | CA1993857 | TTN,TTN-AS1 | c.45395C>T (p.Pro15132Leu) c.26480C>T (p.Pro8827Leu) c.26279C>T (p.Pro8760Leu) c.25904C>T (p.Pro8635Leu) c.53099C>T (p.Pro17700Leu) c.48176C>T (p.Pro16059Leu) n.683-578G>A c.52196C>T (p.Pro17399Leu) c.26090C>T (p.Pro8697Leu) c.25949C>T (p.Pro8650Leu) c.51992C>T (p.Pro17331Leu) c.47390C>T (p.Pro15797Leu) c.47387C>T (p.Pro15796Leu) c.44429C>T (p.Pro14810Leu) c.26045C>T (p.Pro8682Leu) c.47540C>T (p.Pro15847Leu) c.47537C>T (p.Pro15846Leu) c.46970C>T (p.Pro15657Leu) c.44312C>T (p.Pro14771Leu) c.44231C>T (p.Pro14744Leu) c.25994C>T (p.Pro8665Leu) c.15848C>T (p.Pro5283Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178607589G>C | CA349568294 | TTN,TTN-AS1 | c.45395C>G (p.Pro15132Arg) c.26480C>G (p.Pro8827Arg) c.26279C>G (p.Pro8760Arg) c.25904C>G (p.Pro8635Arg) c.53099C>G (p.Pro17700Arg) c.48176C>G (p.Pro16059Arg) n.683-578G>C c.52196C>G (p.Pro17399Arg) c.26090C>G (p.Pro8697Arg) c.25949C>G (p.Pro8650Arg) c.51992C>G (p.Pro17331Arg) c.47390C>G (p.Pro15797Arg) c.47387C>G (p.Pro15796Arg) c.44429C>G (p.Pro14810Arg) c.26045C>G (p.Pro8682Arg) c.47540C>G (p.Pro15847Arg) c.47537C>G (p.Pro15846Arg) c.46970C>G (p.Pro15657Arg) c.44312C>G (p.Pro14771Arg) c.44231C>G (p.Pro14744Arg) c.25994C>G (p.Pro8665Arg) c.15848C>G (p.Pro5283Arg) | |
| 2 | g.178607589G= | CA1310546625 | TTN,TTN-AS1 | c.45395C= (p.Pro15132=) c.26480C= (p.Pro8827=) c.26279C= (p.Pro8760=) c.25904C= (p.Pro8635=) c.53099C= (p.Pro17700=) c.48176C= (p.Pro16059=) n.683-578G= c.52196C= (p.Pro17399=) c.26090C= (p.Pro8697=) c.25949C= (p.Pro8650=) c.51992C= (p.Pro17331=) c.47390C= (p.Pro15797=) c.47387C= (p.Pro15796=) c.44429C= (p.Pro14810=) c.26045C= (p.Pro8682=) c.47540C= (p.Pro15847=) c.47537C= (p.Pro15846=) c.46970C= (p.Pro15657=) c.44312C= (p.Pro14771=) c.44231C= (p.Pro14744=) c.25994C= (p.Pro8665=) c.15848C= (p.Pro5283=) | |
| 2 | g.178607589G>T | CA349568300 | TTN,TTN-AS1 | c.45395C>A (p.Pro15132His) c.26480C>A (p.Pro8827His) c.26279C>A (p.Pro8760His) c.25904C>A (p.Pro8635His) c.53099C>A (p.Pro17700His) c.48176C>A (p.Pro16059His) n.683-578G>T c.52196C>A (p.Pro17399His) c.26090C>A (p.Pro8697His) c.25949C>A (p.Pro8650His) c.51992C>A (p.Pro17331His) c.47390C>A (p.Pro15797His) c.47387C>A (p.Pro15796His) c.44429C>A (p.Pro14810His) c.26045C>A (p.Pro8682His) c.47540C>A (p.Pro15847His) c.47537C>A (p.Pro15846His) c.46970C>A (p.Pro15657His) c.44312C>A (p.Pro14771His) c.44231C>A (p.Pro14744His) c.25994C>A (p.Pro8665His) c.15848C>A (p.Pro5283His) | |
| 2 | g.178607590G>A | CA349568308 | TTN,TTN-AS1 | c.45394C>T (p.Pro15132Ser) c.26479C>T (p.Pro8827Ser) c.26278C>T (p.Pro8760Ser) c.25903C>T (p.Pro8635Ser) c.53098C>T (p.Pro17700Ser) c.48175C>T (p.Pro16059Ser) n.683-577G>A c.52195C>T (p.Pro17399Ser) c.26089C>T (p.Pro8697Ser) c.25948C>T (p.Pro8650Ser) c.51991C>T (p.Pro17331Ser) c.47389C>T (p.Pro15797Ser) c.47386C>T (p.Pro15796Ser) c.44428C>T (p.Pro14810Ser) c.26044C>T (p.Pro8682Ser) c.47539C>T (p.Pro15847Ser) c.47536C>T (p.Pro15846Ser) c.46969C>T (p.Pro15657Ser) c.44311C>T (p.Pro14771Ser) c.44230C>T (p.Pro14744Ser) c.25993C>T (p.Pro8665Ser) c.15847C>T (p.Pro5283Ser) | |
| 2 | g.178607590G>C | CA349568310 | TTN,TTN-AS1 | c.45394C>G (p.Pro15132Ala) c.26479C>G (p.Pro8827Ala) c.26278C>G (p.Pro8760Ala) c.25903C>G (p.Pro8635Ala) c.53098C>G (p.Pro17700Ala) c.48175C>G (p.Pro16059Ala) n.683-577G>C c.52195C>G (p.Pro17399Ala) c.26089C>G (p.Pro8697Ala) c.25948C>G (p.Pro8650Ala) c.51991C>G (p.Pro17331Ala) c.47389C>G (p.Pro15797Ala) c.47386C>G (p.Pro15796Ala) c.44428C>G (p.Pro14810Ala) c.26044C>G (p.Pro8682Ala) c.47539C>G (p.Pro15847Ala) c.47536C>G (p.Pro15846Ala) c.46969C>G (p.Pro15657Ala) c.44311C>G (p.Pro14771Ala) c.44230C>G (p.Pro14744Ala) c.25993C>G (p.Pro8665Ala) c.15847C>G (p.Pro5283Ala) | |
| 2 | g.178607590G>T | CA349568313 | TTN,TTN-AS1 | c.45394C>A (p.Pro15132Thr) c.26479C>A (p.Pro8827Thr) c.26278C>A (p.Pro8760Thr) c.25903C>A (p.Pro8635Thr) c.53098C>A (p.Pro17700Thr) c.48175C>A (p.Pro16059Thr) n.683-577G>T c.52195C>A (p.Pro17399Thr) c.26089C>A (p.Pro8697Thr) c.25948C>A (p.Pro8650Thr) c.51991C>A (p.Pro17331Thr) c.47389C>A (p.Pro15797Thr) c.47386C>A (p.Pro15796Thr) c.44428C>A (p.Pro14810Thr) c.26044C>A (p.Pro8682Thr) c.47539C>A (p.Pro15847Thr) c.47536C>A (p.Pro15846Thr) c.46969C>A (p.Pro15657Thr) c.44311C>A (p.Pro14771Thr) c.44230C>A (p.Pro14744Thr) c.25993C>A (p.Pro8665Thr) c.15847C>A (p.Pro5283Thr) |